Quantitative models for predicting mutations in lynch syndrome genes

Sining Chen, David M Euhus, Giovanni Parmigiani

Research output: Contribution to journalArticle

Abstract

As genotyping for Lynch syndrome has become widespread, more and more people are being counseled about whether to be genotyped for mutations in mismatch repair genes. Recently a number of quantitative models have been developed to identify potential Lynch syndrome patients and serve as decision aids for patients at genetic counseling clinics. In contrast to existing clinical guidelines that give dichotomous classifications, these models provide a probability that a family or individual has Lynch syndrome. These models have been shown to be useful tools in identifying likely carriers of Lynch syndrome mutations. Correctly used, they have the potential to greatly improve the current diagnosis and management of Lynch syndrome families. To help clinicians and genetic counseling professionals understand the differences among these models and use the models wisely, we review the key features of each model and offer some guidelines on their use.

Original languageEnglish (US)
Pages (from-to)206-211
Number of pages6
JournalCurrent Colorectal Cancer Reports
Volume3
Issue number4
DOIs
StatePublished - Oct 2007
Externally publishedYes

Fingerprint

Hereditary Nonpolyposis Colorectal Neoplasms
Mutation
Genes
Genetic Counseling
Guidelines
DNA Mismatch Repair
Decision Support Techniques

ASJC Scopus subject areas

  • Oncology
  • Gastroenterology
  • Hepatology

Cite this

Quantitative models for predicting mutations in lynch syndrome genes. / Chen, Sining; Euhus, David M; Parmigiani, Giovanni.

In: Current Colorectal Cancer Reports, Vol. 3, No. 4, 10.2007, p. 206-211.

Research output: Contribution to journalArticle

Chen, Sining ; Euhus, David M ; Parmigiani, Giovanni. / Quantitative models for predicting mutations in lynch syndrome genes. In: Current Colorectal Cancer Reports. 2007 ; Vol. 3, No. 4. pp. 206-211.
@article{236f6605551043cf8977a8dcba27b411,
title = "Quantitative models for predicting mutations in lynch syndrome genes",
abstract = "As genotyping for Lynch syndrome has become widespread, more and more people are being counseled about whether to be genotyped for mutations in mismatch repair genes. Recently a number of quantitative models have been developed to identify potential Lynch syndrome patients and serve as decision aids for patients at genetic counseling clinics. In contrast to existing clinical guidelines that give dichotomous classifications, these models provide a probability that a family or individual has Lynch syndrome. These models have been shown to be useful tools in identifying likely carriers of Lynch syndrome mutations. Correctly used, they have the potential to greatly improve the current diagnosis and management of Lynch syndrome families. To help clinicians and genetic counseling professionals understand the differences among these models and use the models wisely, we review the key features of each model and offer some guidelines on their use.",
author = "Sining Chen and Euhus, {David M} and Giovanni Parmigiani",
year = "2007",
month = "10",
doi = "10.1007/s11888-007-0032-4",
language = "English (US)",
volume = "3",
pages = "206--211",
journal = "Current Colorectal Cancer Reports",
issn = "1556-3790",
publisher = "Springer Science + Business Media",
number = "4",

}

TY - JOUR

T1 - Quantitative models for predicting mutations in lynch syndrome genes

AU - Chen, Sining

AU - Euhus, David M

AU - Parmigiani, Giovanni

PY - 2007/10

Y1 - 2007/10

N2 - As genotyping for Lynch syndrome has become widespread, more and more people are being counseled about whether to be genotyped for mutations in mismatch repair genes. Recently a number of quantitative models have been developed to identify potential Lynch syndrome patients and serve as decision aids for patients at genetic counseling clinics. In contrast to existing clinical guidelines that give dichotomous classifications, these models provide a probability that a family or individual has Lynch syndrome. These models have been shown to be useful tools in identifying likely carriers of Lynch syndrome mutations. Correctly used, they have the potential to greatly improve the current diagnosis and management of Lynch syndrome families. To help clinicians and genetic counseling professionals understand the differences among these models and use the models wisely, we review the key features of each model and offer some guidelines on their use.

AB - As genotyping for Lynch syndrome has become widespread, more and more people are being counseled about whether to be genotyped for mutations in mismatch repair genes. Recently a number of quantitative models have been developed to identify potential Lynch syndrome patients and serve as decision aids for patients at genetic counseling clinics. In contrast to existing clinical guidelines that give dichotomous classifications, these models provide a probability that a family or individual has Lynch syndrome. These models have been shown to be useful tools in identifying likely carriers of Lynch syndrome mutations. Correctly used, they have the potential to greatly improve the current diagnosis and management of Lynch syndrome families. To help clinicians and genetic counseling professionals understand the differences among these models and use the models wisely, we review the key features of each model and offer some guidelines on their use.

UR - http://www.scopus.com/inward/record.url?scp=79952195445&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=79952195445&partnerID=8YFLogxK

U2 - 10.1007/s11888-007-0032-4

DO - 10.1007/s11888-007-0032-4

M3 - Article

AN - SCOPUS:79952195445

VL - 3

SP - 206

EP - 211

JO - Current Colorectal Cancer Reports

JF - Current Colorectal Cancer Reports

SN - 1556-3790

IS - 4

ER -